| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120482C>T | CA038552 | LDLR | c.2358C>T (p.Asp786=) c.*169C>T (n.*169C>T) c.1980C>T (p.Asp660=) c.2100C>T (p.Asp700=) c.2354C>T c.1596C>T (p.Asp532=) c.1977C>T (p.Asp659=) c.1606+249C>T (n.1606+249C>T) c.1719C>T (p.Asp573=) n.2110C>T n.2217C>T n.2077C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11120482C>G | CA10585774 | LDLR | c.2358C>G (p.Asp786Glu) c.*169C>G (n.*169C>G) c.1980C>G (p.Asp660Glu) c.2100C>G (p.Asp700Glu) c.2354C>G c.1596C>G (p.Asp532Glu) c.1977C>G (p.Asp659Glu) c.1606+249C>G (n.1606+249C>G) c.1719C>G (p.Asp573Glu) n.2110C>G n.2217C>G n.2077C>G | ClinVar dbSNP |